Hasil Pencarian - Jun Tohyama

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  1. 1
    Immunostaining of Human Amniotic Epithelial Cells: Possible use as a Transgene Carrier in Gene Therapy for Inborn Errors of Metabolism

    Immunostaining of Human Amniotic Epithelial Cells: Possible use as a Transgene Carrier in Gene Therapy for Inborn Errors of Metabolism oleh Norio Sakuragawa, Jun Tohyama, Hiroshi Yamamoto

    Diterbitkan 1995-05-01
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  2. 2
    A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant

    A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant oleh Hiromi Nyuzuki, Junichi Ozawa, Keisuke Nagasaki, Yosuke Nishio, Tomoo Ogi, Jun Tohyama, Takeshi Ikeuchi

    Diterbitkan 2024-02-01
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  3. 3
    Neuropsychiatric Disorder Associated with Group G Streptococcus Infection

    Neuropsychiatric Disorder Associated with Group G Streptococcus Infection oleh Rie Okumura, Sawako Yamazaki, Tsukasa Ohashi, Shinichi Magara, Jun Tohyama, Hiroshi Sakuma, Masaharu Hayashi, Akihiko Saitoh

    Diterbitkan 2018-01-01
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  4. 4
    Corrigendum to “Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child”

    Corrigendum to “Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child” oleh Ryo Suzuki, Atsushi Tanaka, Toshiharu Matsui, Tetsuki Gunji, Jun Tohyama, Aya Narita, Eiji Nanba, Kousaku Ohno

    Diterbitkan 2017-01-01
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  5. 5
    Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child

    Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child oleh Ryo Suzuki, Atsushi Tanaka, Toshiharu Matsui, Tetsuki Gunji, Jun Tohyama, Aya Nairita, Eiji Nanba, Kousaku Ohno

    Diterbitkan 2015-01-01
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  6. 6
    Recurrence rates and risk factors for seizure recurrence following antiseizure medication withdrawal in adolescent patients with genetic generalized epilepsy

    Recurrence rates and risk factors for seizure recurrence following antiseizure medication withdrawal in adolescent patients with genetic generalized epilepsy oleh Takao Komatsubara, Yu Kobayashi, Akiko Hiraiwa, Shinichi Magara, Moemi Hojo, Takeshi Ono, Kenichi Okazaki, Masafumi Fukuda, Jun Tohyama

    Diterbitkan 2022-06-01
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  7. 7
    Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

    Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy oleh Yutaka Negishi, Daisuke Ieda, Ikumi Hori, Yasuyuki Nozaki, Takanori Yamagata, Hirofumi Komaki, Jun Tohyama, Keisuke Nagasaki, Hiroko Tada, Shinji Saitoh

    Diterbitkan 2019-12-01
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  8. 8
    Sirolimus for epileptic seizures associated with focal cortical dysplasia type II

    Sirolimus for epileptic seizures associated with focal cortical dysplasia type II oleh Mitsuhiro Kato, Akiko Kada, Hideaki Shiraishi, Jun Tohyama, Eiji Nakagawa, Yukitoshi Takahashi, Tomoyuki Akiyama, Akiyoshi Kakita, Noriko Miyake, Atsushi Fujita, Akiko M. Saito, Yushi Inoue

    Diterbitkan 2022-02-01
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  9. 9
    The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus

    The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus oleh Yu Kobayashi, Jun Tohyama, Noriyuki Akasaka, Kei Yamada, Moemi Hojo, Eijun Seki, Masaki Miura, Noriko Soma, Takeshi Ono, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto

    Diterbitkan 2023-06-01
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  10. 10
    Different pharmacoresistance of focal epileptic spasms, generalized epileptic spasms, and generalized epileptic spasms combined with focal seizures

    Different pharmacoresistance of focal epileptic spasms, generalized epileptic spasms, and generalized epileptic spasms combined with focal seizures oleh Yukitoshi Takahashi, Akiko Ota, Jun Tohyama, Tomoko Kirino, Yumi Fujiwara, Chizuru Ikeda, Shigeki Tanaka, Jyunya Takahashi, Toshihiko Shinoki, Hiroshi Shiraga, Takushi Inoue, Hiroshi Fujita, Motoki Bonno, Masayoshi Nagao, Hideo Kaneko

    Diterbitkan 2022-03-01
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  11. 11
    ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice

    ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice oleh Kazushi Aoto, Mitsuhiro Kato, Tenpei Akita, Mitsuko Nakashima, Hiroki Mutoh, Noriyuki Akasaka, Jun Tohyama, Yoshiko Nomura, Kyoko Hoshino, Yasuhiko Ago, Ryuta Tanaka, Orna Epstein, Revital Ben-Haim, Eli Heyman, Takehiro Miyazaki, Hazrat Belal, Shuji Takabayashi, Chihiro Ohba, Atsushi Takata, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu

    Diterbitkan 2021-04-01
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  12. 12
    Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

    Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement oleh Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Hideaki Shiraishi, Yutaka Nonoda, Shinichi Magara, Jun Tohyama, Nobuhiko Okamoto, Takeshi Kumagai, Konomi Shimoda, Yoshiya Yukitake, Daigo Kajikawa, Tomohiro Morio, Ayako Hattori, Motoo Nakagawa, Naoki Ando, Ichizo Nishino, Mitsuhiro Kato, Tatsuhiko Tsunoda, Hirotomo Saitsu, Yonehiro Kanemura, Mami Yamasaki, Kenjiro Kosaki, Naomichi Matsumoto, Tamotsu Yoshimori, Shinji Saitoh

    Diterbitkan 2017-06-01
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  13. 13
    An integrated genetic analysis of epileptogenic brain malformed lesions

    An integrated genetic analysis of epileptogenic brain malformed lesions oleh Atsushi Fujita, Mitsuhiro Kato, Hidenori Sugano, Yasushi Iimura, Hiroharu Suzuki, Jun Tohyama, Masafumi Fukuda, Yosuke Ito, Shimpei Baba, Tohru Okanishi, Hideo Enoki, Ayataka Fujimoto, Akiyo Yamamoto, Kentaro Kawamura, Shinsuke Kato, Ryoko Honda, Tomonori Ono, Hideaki Shiraishi, Kiyoshi Egawa, Kentaro Shirai, Shinji Yamamoto, Itaru Hayakawa, Hisashi Kawawaki, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Satoko Miyatake, Takeshi Mizuguchi, Mitsuko Nakashima, Hirotomo Saitsu, Noriko Miyake, Akiyoshi Kakita, Naomichi Matsumoto

    Diterbitkan 2023-03-01
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  14. 14
    Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

    Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder oleh Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Satoko Miyatake, Eriko Koshimizu, Itaru Kushima, Takashi Okada, Mako Morikawa, Yota Uno, Kanako Ishizuka, Kazuhiko Nakamura, Masatsugu Tsujii, Takeo Yoshikawa, Tomoko Toyota, Nobuhiko Okamoto, Yoko Hiraki, Ryota Hashimoto, Yuka Yasuda, Shinji Saitoh, Kei Ohashi, Yasunari Sakai, Shouichi Ohga, Toshiro Hara, Mitsuhiro Kato, Kazuyuki Nakamura, Aiko Ito, Chizuru Seiwa, Emi Shirahata, Hitoshi Osaka, Ayumi Matsumoto, Saoko Takeshita, Jun Tohyama, Tomoko Saikusa, Toyojiro Matsuishi, Takumi Nakamura, Takashi Tsuboi, Tadafumi Kato, Toshifumi Suzuki, Hirotomo Saitsu, Mitsuko Nakashima, Takeshi Mizuguchi, Fumiaki Tanaka, Norio Mori, Norio Ozaki, Naomichi Matsumoto

    Diterbitkan 2018-01-01
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  15. 15
    Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

    Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy oleh Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto

    Diterbitkan 2019-06-01
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  16. 16
    Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype

    Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype oleh Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume Beaure d'Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, John C. Kingswood, Anna C. Jansen, Nobuo Shinohara, Shigeo Horie, Masaya Kubota, Jun Tohyama, Katsumi Imai, Mari Kaneda, Hideo Kaneko, Yasushi Uchida, Tomoko Kirino, Shoichi Endo, Yoshikazu Inoue, Katsuhisa Uruno, Ayse Serdaroglu, Zuhal Yapici, Banu Anlar, Sakir Altunbasak, Olga Lvova, Oleg Valeryevich Belyaev, Oleg Agranovich, Elena Vladislavovna Levitina, Yulia Vladimirovna Maksimova, Antonina Karas, Yuwu Jiang, Liping Zou, Kaifeng Xu, Yushi Zhang, Guoming Luan, Yuqin Zhang, Yi Wang, Meiling Jin, Dingwei Ye, Weiping Liao, Liemin Zhou, Jie Liu, Jianxiang Liao, Bo Yan, Yanchun Deng, Li Jiang, Zhisheng Liu, Shaoping Huang, Hua Li, Kijoong Kim, Pei-Lung Chen, Hsiu-Fen Lee, Jeng-Dau Tsai, Ching-Shiang Chi, Chao-Ching Huang, Kate Riney, Deborah Yates, Patrick Kwan, Surachai Likasitwattanakul, Charcrin Nabangchang, Lunliya Thampratankul Krisnachai Chomtho, Kamornwan Katanyuwong, Somjit Sriudomkajorn, Jo Wilmshurst, Reeval Segel, Tal Gilboa, Michal Tzadok, Aviva Fattal-Valevski, Panagiotis Papathanasopoulos, Antigone Syrigou Papavasiliou, Stylianos Giannakodimos, Stylianos Gatzonis, Evangelos Pavlou, Meropi Tzoufi, A. M. H. Vergeer, Marc Dhooghe, Hélène Verhelst, Filip Roelens, Marie Cecile Nassogne, Pierre Defresne, Liesbeth De Waele, Patricia Leroy, Nathalie Demonceau, Benjamin Legros, Patrick Van Bogaert, Berten Ceulemans, Lina Dom, Pierre Castelnau, Anne De Saint Martin, Audrey Riquet, Mathieu Milh, Claude Cances, Jean-Michel Pedespan, Dorothee Ville, Agathe Roubertie, Stéphane Auvin, Patrick Berquin, Christian Richelme, Catherine Allaire, Sophie Gueden, Sylvie Nguyen The Tich, Bertrand Godet, Maria Luz Ruiz Falco Rojas, Jaume Campistol Planas, Antonio Martinez Bermejo, Patricia Smeyers Dura, Susana Roldan Aparicio, Maria Jesus Martinez Gonzalez, Javier Lopez Pison, Manuel Oscar Blanco Barca, Eduardo Lopez Laso, Olga Alonso Luengo, Francisco Javier Aguirre Rodriguez, Ignacio Malaga Dieguez, Ana Camacho Salas, Itxaso Marti Carrera, Eduardo Martinez Salcedo, Maria Eugenia Yoldi Petri, Ramon Cancho Candela, Ines da Conceicao Carrilho, Jose Pedro Vieira, José Paulo da Silva Oliveira Monteiro, Miguel Jorge Santos de Oliveira Ferreira Leao, Catarina Sofia Marceano Ribeiro Luis, Carla Pires Mendonca, Milda Endziniene, Jurgis Strautmanis, Inga Talvik, Maria Paola Canevini, Antonio Gambardella, Dario Pruna, Salvatore Buono, Elena Fontana, Bernardo Dalla Bernardina, Carmen Burloiu, Iuliu Stefan Bacos Cosma, Mihaela Adela Vintan, Laura Popescu, Karel Zitterbart, Jaroslava Payerova, Ladislav Bratsky, Zuzana Zilinska, Ursula Gruber-Sedlmayr, Matthias Baumann, Edda Haberlandt, Kevin Rostasy, Ekaterina Pataraia, Frances Elmslie, Clare Ann Johnston, Pamela Crawford, Peter Uldall, Paul Uvebrant, Olof Rask, Marit Bjoernvold, Eylert Brodtkorb, Andreas Sloerdahl, Ragnar Solhoff, Martine Sofie Gilje Jaatun, Marek Mandera, Elzbieta Janina Radzikowska, Mariusz Wysocki, Michael Fischereder, Gerhard Kurlemann, Bernd Wilken, Adelheid Wiemer-Kruel, Klemens Budde, Klaus Marquard, Markus Knuf, Andreas Hahn, Hans Hartmann, Andreas Merkenschlager, Regina Trollmann

    Diterbitkan 2020-07-01
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